NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu) AND Type 2 diabetes mellitus
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466059.2
Allele description [Variation Report for NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)]
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
Condition(s)
- Name:
- Type 2 diabetes mellitus
- Synonyms:
- DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
- Identifiers:
- MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
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Homo sapiens MIA SH3 domain ER export factor 2 (MIA2), transcript variant 3, mRN...
Homo sapiens MIA SH3 domain ER export factor 2 (MIA2), transcript variant 3, mRNAgi|1677538509|ref|NM_203355.3|Nucleotide
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Gene Links for GEO Profiles (Select 106106856) (1)
Gene
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ADGRD1 adhesion G protein-coupled receptor D1 [Homo sapiens]
ADGRD1 adhesion G protein-coupled receptor D1 [Homo sapiens]Gene ID:283383Gene
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RAB10 RAB10, member RAS oncogene family [Homo sapiens]
RAB10 RAB10, member RAS oncogene family [Homo sapiens]Gene ID:10890Gene
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Gene Links for GEO Profiles (Select 59412361) (1)
Gene
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Last Updated: Jul 29, 2024